Cargando…

Patient-specific induced pluripotent stem cell properties implicate Ca(2+)-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants

We illustrate use of induced pluripotent stem cells (iPSCs) as platforms for investigating cardiomyocyte phenotypes in a human family pedigree exemplified by novel heterozygous RYR2-A1855D and SCN10A-Q1362H variants occurring alone and in combination. The proband, a four-month-old boy, presented wit...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhou, Yafei, Huang, Wenjun, Liu, Leiying, Li, Anmao, Jiang, Congshan, Zhou, Rui, Wang, Jie, Tan, Xiaoqiu, Huang, Christopher L.-H., Zhang, Yanmin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Royal Society 2023
Materias:	Part III: Ca2+ Homeostasis and Excitation Contraction Coupling
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10150201/ https://www.ncbi.nlm.nih.gov/pubmed/37122207 http://dx.doi.org/10.1098/rstb.2022.0175

Ejemplares similares

Timing mechanisms to control heart rhythm and initiate arrhythmias: roles for intracellular organelles, signalling pathways and subsarcolemmal Ca(2+)
por: Terrar, Derek A.
Publicado: (2023)

Feedback contributions to excitation–contraction coupling in native functioning striated muscle
por: Salvage, Samantha C., et al.
Publicado: (2023)

FKBP12 binds to the cardiac ryanodine receptor with negative cooperativity: implications for heart muscle physiology in health and disease
por: Richardson, S. J., et al.
Publicado: (2023)

Spatial and temporal heterogeneities are localized to the right ventricular outflow tract in a heterozygotic Scn5a mouse model
por: Martin, Claire A., et al.
Publicado: (2011)

Measurement and interpretation of electrocardiographic QT intervals in murine hearts
por: Zhang, Yanmin, et al.
Publicado: (2014)

Compensatory and decompensatory alterations in cardiomyocyte Ca(2+) dynamics in hearts with diastolic dysfunction following aortic banding
por: Gattoni, Sara, et al.
Publicado: (2017)

Electrical defects of the transverse‐axial tubular system in cardiac diseases
por: Crocini, Claudia, et al.
Publicado: (2017)

A mathematical model of action potentials of mouse sinoatrial node cells with molecular bases
por: Kharche, Sanjay, et al.
Publicado: (2011)

Cardiac tissue slices: preparation, handling, and successful optical mapping
por: Wang, Ken, et al.
Publicado: (2015)

Effect of autonomic blocking agents on the respiratory-related oscillations of ventricular action potential duration in humans
por: van Duijvenboden, Stefan, et al.
Publicado: (2015)

Altered Na/Ca exchange distribution in ventricular myocytes from failing hearts
por: Gadeberg, Hanne C., et al.
Publicado: (2015)

Measurement bias in activation-recovery intervals from unipolar electrograms
por: Western, David, et al.
Publicado: (2014)

Ventricular stimulus site influences dynamic dispersion of repolarization in the intact human heart
por: Srinivasan, Neil T., et al.
Publicado: (2016)

Cardiac deficiency of P21-activated kinase 1 promotes atrial arrhythmogenesis in mice following adrenergic challenge
por: Jung, Eunjeong, et al.
Publicado: (2023)

What aspects of rehabilitation provision contribute to self‐reported met needs for rehabilitation one year after stroke – amount, place, operator or timing?
por: Tistad, Malin, et al.
Publicado: (2013)

Carer involvement with drug services: a qualitative study
por: Orr, Linda C., et al.
Publicado: (2012)

Optimizing patient involvement in quality improvement
por: Armstrong, Natalie, et al.
Publicado: (2013)

Linking people with long‐term health conditions to healthy community activities: development of Patient‐Led Assessment for Network Support (PLANS)
por: Blickem, Christian, et al.
Publicado: (2013)

Designing a placebo device: involving service users in clinical trial design
por: Gooberman‐Hill, Rachael, et al.
Publicado: (2013)

Hearing the voices of service user researchers in collaborative qualitative data analysis: the case for multiple coding
por: Sweeney, Angela, et al.
Publicado: (2012)

Does cultural context make a difference to women’s experiences of maternity care? A qualitative study comparing the perspectives of breast‐feeding women of Bangladeshi origin and health practitioners
por: McFadden, Alison, et al.
Publicado: (2012)

The care delivery experience of hospitalized patients with complex chronic disease
por: Kuluski, Kerry, et al.
Publicado: (2013)

Absence of synergy for monosynaptic Group I inputs between abdominal and internal intercostal motoneurons
por: Ford, T. W., et al.
Publicado: (2014)

Increased intrinsic excitability of muscle vasoconstrictor preganglionic neurons may contribute to the elevated sympathetic activity in hypertensive rats
por: Briant, Linford J. B., et al.
Publicado: (2014)

Couple Relationship Quality and the Infant Home Language Environment: Gender-Specific Findings
por: Fink, Elian, et al.
Publicado: (2019)

Interparental Relationship Adjustment, Parenting, and Offspring’s Cigarette Smoking at the 10‐Year Follow‐up
por: Zhao, Xiang, et al.
Publicado: (2020)

Relationship‐undermining statements by psychotherapists with clients who present with marital or couple problems
por: Doherty, William J., et al.
Publicado: (2022)

Explaining Heterogeneity of Daily Conflict Spillover in the Family: The Role of Dyadic Marital Conflict Patterns
por: Mastrotheodoros, Stefanos, et al.
Publicado: (2021)

“I think it’s communication and trust and sharing everything”: Qualitative evidence for a model of healthy intimate relationships in Black women living with HIV and men in KwaZulu‐Natal, South Africa
por: Belus, Jennifer M., et al.
Publicado: (2021)

Online clinical supervision in couple and family therapy: A scoping review
por: Aviram, Alon, et al.
Publicado: (2022)

Couple therapy in the 2020s: Current status and emerging developments
por: Lebow, Jay, et al.
Publicado: (2022)

Shensu IV prevents glomerular podocyte injury in nephrotic rats via promoting lncRNA H19/DIRAS3-mediated autophagy
por: Huang, Yong, et al.
Publicado: (2021)

Isologous Oxygen, Sulfur, and Selenium Compounds as Probes of Acetylcholine Receptors
por: Mautner, Henry G.
Publicado: (1969)

Spin-Labeled Membranes
por: McConnell, Harden M.
Publicado: (1969)

Chemical Modification of the Active Site of the Acetylcholine Receptor
por: Karlin, Arthur
Publicado: (1969)

On Some Structural Analogies between Acetylcholinesterase and the Macromolecular Receptor of Acetylcholine
por: Changeux, Jean-Pierre, et al.
Publicado: (1969)

Action on the Electroplax of Antibiotics Affecting Membrane Permeability
por: Silman, Israel
Publicado: (1969)

Proteins of Excitable Membranes
por: Nachmansohn, David
Publicado: (1969)

Multiplatform characterization of dynamic changes in breast milk during lactation
por: Andreas, Nicholas J., et al.
Publicado: (2015)

Electroextraction and electromembrane extraction: Advances in hyphenation to analytical techniques
por: Oedit, Amar, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_9e3lbiivpjbupglat0n0n9i1ej